Variant report

Variant	rs4841533
Chromosome Location	chr8:11306272-11306273
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11306168-11306994	U87	brain:	n/a	n/a
2	POLR2A	chr8:11305791-11307062	U87	brain:	n/a	n/a
3	EGR1	chr8:11306086-11306386	K562	blood:	n/a	chr8:11306250-11306263 chr8:11306248-11306258
4	MAX	chr8:11306146-11306474	K562	blood:	n/a	chr8:11306248-11306258
5	POLR2A	chr8:11305928-11307021	U87	brain:	n/a	n/a

Variant related genes	Relation type
FAM167A	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10088323	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10448145	0.83[ASN][1000 genomes]
rs10903338	0.83[ASN][1000 genomes]
rs11250136	0.98[ASN][1000 genomes]
rs11250137	0.92[ASN][1000 genomes]
rs11777505	0.90[ASN][1000 genomes]
rs11779875	0.88[ASN][1000 genomes]
rs11785710	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11991448	0.91[ASN][1000 genomes]
rs11991453	0.95[ASN][1000 genomes]
rs12543308	0.97[ASN][1000 genomes]
rs13248746	0.92[ASN][1000 genomes]
rs13264212	0.90[ASN][1000 genomes]
rs2003422	0.89[ASN][1000 genomes]
rs2003423	0.89[ASN][1000 genomes]
rs2409767	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2409769	0.81[EUR][1000 genomes]
rs2409770	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2409771	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2409772	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2409773	0.98[ASN][1000 genomes]
rs2409774	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2409775	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34013904	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35161715	0.97[ASN][1000 genomes]
rs35433745	0.89[ASN][1000 genomes]
rs3989103	0.97[ASN][1000 genomes]
rs4581006	0.93[ASN][1000 genomes]
rs4840560	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4840561	0.87[ASN][1000 genomes]
rs4840562	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4841534	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841535	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4841536	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841537	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841539	0.95[ASN][1000 genomes]
rs4841540	0.84[ASN][1000 genomes]
rs4841542	0.81[ASN][1000 genomes]
rs58004460	0.89[ASN][1000 genomes]
rs6601589	0.92[ASN][1000 genomes]
rs6983820	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7830445	0.90[ASN][1000 genomes]
rs9693089	0.83[ASN][1000 genomes]
rs9792166	0.97[ASN][1000 genomes]
rs9792175	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9792227	0.88[ASN][1000 genomes]
rs9792375	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9792397	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4841533	FAM167A	cis	Skin Sun Exposed Lower leg	GTEx
rs4841533	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:11286200-11306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
4	chr8:11292400-11313000	Weak transcription	Pancreas	Pancrea
5	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
6	chr8:11298800-11308600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:11299400-11306600	Enhancers	Stomach Mucosa	stomach
8	chr8:11302800-11306400	Weak transcription	Lung	lung
9	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr8:11303800-11306800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:11304600-11306600	Weak transcription	Esophagus	oesophagus
12	chr8:11304600-11308200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:11304600-11308400	Weak transcription	Thymus	Thymus
14	chr8:11305000-11307400	Enhancers	Brain Anterior Caudate	brain
15	chr8:11305200-11306400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:11305200-11307800	Enhancers	Placenta	Placenta
17	chr8:11305600-11306600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr8:11305800-11306400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:11305800-11306400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:11305800-11306400	Bivalent Enhancer	Right Ventricle	heart
21	chr8:11305800-11306600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:11305800-11306600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:11305800-11306600	Enhancers	A549	lung
24	chr8:11305800-11306800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:11305800-11306800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:11305800-11306800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:11305800-11306800	Enhancers	NHEK	skin
28	chr8:11305800-11307000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:11305800-11307600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:11305800-11308200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:11305800-11308200	Enhancers	Fetal Brain Female	brain
32	chr8:11305800-11308200	Enhancers	Osteobl	bone
33	chr8:11305800-11310600	Enhancers	Brain Substantia Nigra	brain
34	chr8:11305800-11312200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:11306000-11306400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:11306000-11306400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr8:11306000-11306400	Enhancers	Brain Germinal Matrix	brain
38	chr8:11306000-11306400	Enhancers	Gastric	stomach
39	chr8:11306000-11306600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:11306000-11306600	Enhancers	NH-A	brain
41	chr8:11306000-11306800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:11306000-11306800	Enhancers	Spleen	Spleen
43	chr8:11306000-11306800	Enhancers	HMEC	breast
44	chr8:11306000-11307000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:11306000-11307000	Enhancers	HSMM	muscle
46	chr8:11306000-11307200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr8:11306000-11307200	Enhancers	Fetal Heart	heart
48	chr8:11306000-11307200	Enhancers	Left Ventricle	heart
49	chr8:11306000-11307200	Enhancers	HSMMtube	muscle
50	chr8:11306000-11307400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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